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Aliases for TBC1D20 Gene

Aliases for TBC1D20 Gene

  • TBC1 Domain Family Member 20 2 3 5
  • TBC1 Domain Family, Member 20 2 3
  • C20orf140 3 4
  • Chromosome 20 Open Reading Frame 140 2
  • WARBM4 3

External Ids for TBC1D20 Gene

Previous HGNC Symbols for TBC1D20 Gene

  • C20orf140

Previous GeneCards Identifiers for TBC1D20 Gene

  • GC20M000367

Summaries for TBC1D20 Gene

Entrez Gene Summary for TBC1D20 Gene

  • This gene encodes a protein that belongs to a family of GTPase activator proteins of Rab-like small GTPases. The encoded protein and its cognate GTPase, Rab1, bind the nonstructural protein 5A (NS5A) of the hepatitis C virus (HCV) to mediate viral replication. Depletion of this protein inhibits replication of the virus and HCV infection. Mutations in this gene are associated with Warburg micro syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

GeneCards Summary for TBC1D20 Gene

TBC1D20 (TBC1 Domain Family Member 20) is a Protein Coding gene. Diseases associated with TBC1D20 include warburg micro syndrome 4 and warburg micro syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. GO annotations related to this gene include GTPase activator activity and Rab GTPase binding.

UniProtKB/Swiss-Prot for TBC1D20 Gene

  • GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBC1D20 Gene

Genomics for TBC1D20 Gene

Regulatory Elements for TBC1D20 Gene

Promoters for TBC1D20 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TBC1D20 on UCSC Golden Path with GeneCards custom track

Genomic Location for TBC1D20 Gene

Chromosome:
20
Start:
435,477 bp from pter
End:
462,553 bp from pter
Size:
27,077 bases
Orientation:
Minus strand

Genomic View for TBC1D20 Gene

Genes around TBC1D20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBC1D20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBC1D20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBC1D20 Gene

Proteins for TBC1D20 Gene

  • Protein details for TBC1D20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BZ9-TBC20_HUMAN
    Recommended name:
    TBC1 domain family member 20
    Protein Accession:
    Q96BZ9
    Secondary Accessions:
    • A8K6I3
    • B9A6M1
    • Q5JWQ7
    • Q6ZSY8
    • Q96NE1
    • Q9BYM7
    • Q9H140

    Protein attributes for TBC1D20 Gene

    Size:
    403 amino acids
    Molecular mass:
    45855 Da
    Quaternary structure:
    • Directly interacts with the N-terminal amphipathic helix of hepatitis C virus (HCV) NS5A.

    Three dimensional structures from OCA and Proteopedia for TBC1D20 Gene

    Alternative splice isoforms for TBC1D20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TBC1D20 Gene

Proteomics data for TBC1D20 Gene at MOPED

Post-translational modifications for TBC1D20 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TBC1D20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TBC1D20 Gene

Domains & Families for TBC1D20 Gene

Protein Domains for TBC1D20 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TBC1D20 Gene

Graphical View of Domain Structure for InterPro Entry

Q96BZ9

UniProtKB/Swiss-Prot:

TBC20_HUMAN :
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
Domain:
  • The arginine and glutamine fingers are critical for the GTPase-activating mechanism, they pull out Rabs switch 2 glutamine and insert in Rabs active site.
  • Contains 1 Rab-GAP TBC domain.
genes like me logo Genes that share domains with TBC1D20: view

No data available for Gene Families for TBC1D20 Gene

Function for TBC1D20 Gene

Molecular function for TBC1D20 Gene

UniProtKB/Swiss-Prot Function:
GTPase-activating protein specific for Rab1 and Rab2 small GTPase families for which it can accelerate the intrinsic GTP hydrolysis rate by more than five orders of magnitude.
genes like me logo Genes that share phenotypes with TBC1D20: view

Human Phenotype Ontology for TBC1D20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TBC1D20 Gene

Localization for TBC1D20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TBC1D20 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBC1D20 Gene COMPARTMENTS Subcellular localization image for TBC1D20 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 5
nucleus 5
plasma membrane 3
cytosol 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for TBC1D20 Gene

Pathways & Interactions for TBC1D20 Gene

genes like me logo Genes that share pathways with TBC1D20: view

Interacting Proteins for TBC1D20 Gene

Gene Ontology (GO) - Biological Process for TBC1D20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007030 Golgi organization IEA,IMP 17684057
GO:0007283 spermatogenesis IEA --
GO:0008584 male gonad development IEA --
GO:0034389 lipid particle organization IEA --
GO:0043010 camera-type eye development IEA --
genes like me logo Genes that share ontologies with TBC1D20: view

No data available for SIGNOR curated interactions for TBC1D20 Gene

Drugs & Compounds for TBC1D20 Gene

No Compound Related Data Available

Transcripts for TBC1D20 Gene

Unigene Clusters for TBC1D20 Gene

TBC1 domain family, member 20:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D20 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11
SP1: - - - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: -
SP6:
SP7: - - -
SP8: -
SP9:
SP10:

Relevant External Links for TBC1D20 Gene

GeneLoc Exon Structure for
TBC1D20
ECgene alternative splicing isoforms for
TBC1D20

Expression for TBC1D20 Gene

mRNA expression in normal human tissues for TBC1D20 Gene

Protein differential expression in normal tissues from HIPED for TBC1D20 Gene

This gene is overexpressed in Bone (28.2) and Peripheral blood mononuclear cells (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBC1D20 Gene



SOURCE GeneReport for Unigene cluster for TBC1D20 Gene Hs.590876

genes like me logo Genes that share expression patterns with TBC1D20: view

Protein tissue co-expression partners for TBC1D20 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TBC1D20 Gene

Orthologs for TBC1D20 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TBC1D20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBC1D20 36
  • 93 (a)
OneToOne
TBC1D20 35
  • 99.01 (n)
  • 99.01 (a)
cow
(Bos Taurus)
Mammalia TBC1D20 35
  • 92.72 (n)
  • 97.27 (a)
TBC1D20 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBC1D20 36
  • 95 (a)
OneToOne
TBC1D20 35
  • 92.8 (n)
  • 95.04 (a)
mouse
(Mus musculus)
Mammalia Tbc1d20 36
  • 93 (a)
OneToOne
Tbc1d20 16
Tbc1d20 35
  • 89.3 (n)
  • 93.28 (a)
oppossum
(Monodelphis domestica)
Mammalia TBC1D20 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 35 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tbc1d20 35
  • 88.89 (n)
  • 93.53 (a)
chicken
(Gallus gallus)
Aves TBC1D20 35
  • 80.38 (n)
  • 90.57 (a)
TBC1D20 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBC1D20 36
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC52691 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.10618 35
tbc1d20.1 35
  • 73.89 (n)
  • 79.9 (a)
zebrafish
(Danio rerio)
Actinopterygii tbc1d20 35
  • 70.61 (n)
  • 76.05 (a)
zgc63863 35
tbc1d20 36
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008312 35
  • 54.2 (n)
  • 45.58 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17883 35
  • 49.88 (n)
  • 45.74 (a)
CG17883 36
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea tbc-20 36
  • 28 (a)
OneToOne
tbc-20 35
  • 49.6 (n)
  • 40.14 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GYP8 36
  • 16 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU05272 35
  • 44.1 (n)
  • 35.77 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gyp10 35
  • 41.7 (n)
  • 32.82 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToOne
Species with no ortholog for TBC1D20:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBC1D20 Gene

ENSEMBL:
Gene Tree for TBC1D20 (if available)
TreeFam:
Gene Tree for TBC1D20 (if available)

Paralogs for TBC1D20 Gene

No data available for Paralogs for TBC1D20 Gene

Variants for TBC1D20 Gene

Sequence variations from dbSNP and Humsavar for TBC1D20 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs36088178 - 447,909(-) TGCCA(A/G)TGACC intron-variant, nc-transcript-variant, reference, missense
rs6695 -- 435,505(+) caaac(A/G)ttatt nc-transcript-variant, utr-variant-3-prime
rs150207 -- 459,799(+) CACTT(C/T)ATCTG intron-variant
rs157795 -- 458,461(+) GACAA(A/G)CTCCA intron-variant
rs157796 -- 460,464(+) AACTC(C/G)ACGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBC1D20 Gene

Variant ID Type Subtype PubMed ID
nsv458842 CNV Loss 19166990
dgv4509n71 CNV Gain 21882294
nsv912568 CNV Gain 21882294
nsv9774 CNV Gain 18304495
nsv469833 CNV Gain 16826518
esv2535181 CNV Deletion 19546169
esv2677224 CNV Deletion 23128226
esv1050414 CNV Deletion 17803354

Variation tolerance for TBC1D20 Gene

Residual Variation Intolerance Score: 23.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.38; 54.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBC1D20 Gene

HapMap Linkage Disequilibrium report
TBC1D20
Human Gene Mutation Database (HGMD)
TBC1D20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBC1D20 Gene

Disorders for TBC1D20 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TBC1D20 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
warburg micro syndrome 4
  • warbm4
warburg micro syndrome
  • micro syndrome
microcephaly, short stature, and impaired glucose metabolism
  • microcephaly, short stature, and impaired glucose metabolism 1
hepatitis c virus
  • hepatitic c virus
spastic diplegia
  • cerebral spastic infantile paralysis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TBC20_HUMAN
  • Warburg micro syndrome 4 (WARBM4) [MIM:615663]: A form of Warburg micro syndrome, a rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism. {ECO:0000269 PubMed:24239381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TBC1D20

Genetic Association Database (GAD)
TBC1D20
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBC1D20
genes like me logo Genes that share disorders with TBC1D20: view

No data available for Genatlas for TBC1D20 Gene

Publications for TBC1D20 Gene

  1. Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans. (PMID: 24239381) Liegel R.P. … Sidjanin D.J. (Am. J. Hum. Genet. 2013) 3 4 67
  2. TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication. (PMID: 17901050) Sklan E.H. … Glenn J.S. (J. Biol. Chem. 2007) 2 3
  3. Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. (PMID: 26063829) Handley M.T. … FitzPatrick D.R. (Open Biol 2015) 3
  4. Human immunodeficiency virus type 1 envelope proteins traffic toward virion assembly sites via a TBC1D20/Rab1-regulated pathway. (PMID: 22260459) Nachmias D. … Bacharach E. (Retrovirology 2012) 3
  5. Catalytic mechanism of a mammalian RabA^RabGAP complex in atomic detail. (PMID: 23236136) Gavriljuk K. … Gerwert K. (Proc. Natl. Acad. Sci. U.S.A. 2012) 3

Products for TBC1D20 Gene

Sources for TBC1D20 Gene

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